Optineurin mutations in Japanese amyotrophic lateral sclerosis

被引:35
作者
Murphy, Sinead M. [1 ,2 ]
Khan, Usman [2 ]
Alifrangis, Constantine [3 ]
Hazell, Steven [4 ]
Hrouda, David [5 ]
Blake, Julian [2 ,6 ,7 ]
Ball, Joanna [8 ]
Gabriel, Carolyn [8 ]
Markarian, Pierre [9 ]
Rees, Jeremy [2 ]
Karim, Abid [1 ,2 ]
Seckl, Michael J. [3 ]
Lunn, Michael P. [1 ,2 ]
Reilly, Mary M. [10 ]
机构
[1] Natl Hosp Neurol & Neurosurg, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England
[2] UCL Inst Neurol, Dept Mol Neurosci, London, England
[3] Imperial Coll NHS Trust, Charing Cross Hosp, Dept Med Oncol, London, England
[4] Imperial Coll NHS Trust, Charing Cross Hosp, Dept Histopathol, London, England
[5] Imperial Coll NHS Trust, Charing Cross Hosp, Dept Urol, London, England
[6] Natl Hosp Neurol & Neurosurg, Dept Clin Neurophysiol, London WC1N 3BG, England
[7] Norfolk & Norwich Univ Hosp, Dept Clin Neurophysiol, Norwich, Norfolk, England
[8] Imperial Coll NHS Trust, St Marys Hosp, London, England
[9] Nexience, Valence, France
[10] Univ Birmingham, Dept Clin Immunol, Birmingham, W Midlands, England
关键词
ONSET;
D O I
10.1136/jnnp.2010.234963
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:233 / 235
页数:3
相关论文
共 5 条
[1]   Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese [J].
Iida, Aritoshi ;
Kamei, Tetsumasa ;
Sano, Motoki ;
Oshima, Shuichi ;
Tokuda, Torao ;
Nakamura, Yusuke ;
Ikegawa, Shiro .
NEUROBIOLOGY OF AGING, 2012, 33 (04) :786-790
[2]   Mutations of optineurin in amyotrophic lateral sclerosis [J].
Maruyama, Hirofumi ;
Morino, Hiroyuki ;
Ito, Hidefumi ;
Izumi, Yuishin ;
Kato, Hidemasa ;
Watanabe, Yasuhito ;
Kinoshita, Yoshimi ;
Kamada, Masaki ;
Nodera, Hiroyuki ;
Suzuki, Hidenori ;
Komure, Osamu ;
Matsuura, Shinya ;
Kobatake, Keitaro ;
Morimoto, Nobutoshi ;
Abe, Koji ;
Suzuki, Naoki ;
Aoki, Masashi ;
Kawata, Akihiro ;
Hirai, Takeshi ;
Kato, Takeo ;
Ogasawara, Kazumasa ;
Hirano, Asao ;
Takumi, Toru ;
Kusaka, Hirofumi ;
Hagiwara, Koichi ;
Kaji, Ryuji ;
Kawakami, Hideshi .
NATURE, 2010, 465 (7295) :223-U109
[3]   Adult-onset primary open-angle glaucoma caused by mutations in optineurin [J].
Rezaie, T ;
Child, A ;
Hitchings, R ;
Brice, G ;
Miller, L ;
Coca-Prados, M ;
Héon, E ;
Krupin, T ;
Ritch, R ;
Kreutzer, D ;
Crick, RP ;
Sarfarazi, M .
SCIENCE, 2002, 295 (5557) :1077-1079
[4]   FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion [J].
Suzuki, Naoki ;
Aoki, Masashi ;
Warita, Hitoshi ;
Kato, Masaaki ;
Mizuno, Hideki ;
Shimakura, Naoko ;
Akiyama, Tetsuya ;
Furuya, Hirokazu ;
Hokonohara, Toshihiro ;
Iwaki, Akiko ;
Togashi, Shinji ;
Konno, Hidehiko ;
Itoyama, Yasuto .
JOURNAL OF HUMAN GENETICS, 2010, 55 (04) :252-254
[5]   Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis [J].
Takahashi, Yuji ;
Seki, Naomi ;
Ishiura, Hiroyuki ;
Mitsui, Jun ;
Matsukawa, Takashi ;
Kishino, Atsushi ;
Onodera, Osamu ;
Aoki, Masashi ;
Shimozawa, Nobuyuki ;
Murayama, Shigeo ;
Itoyama, Yasuto ;
Suzuki, Yasuyuki ;
Sobue, Gen ;
Nishizawa, Masatoyo ;
Goto, Jun ;
Tsuji, Shoji .
ARCHIVES OF NEUROLOGY, 2008, 65 (10) :1326-1332